What question did this study set out to answer?

To determine the long-term clinical and pathological outcomes of heterozygous COL4A3 and COL4A4 gene mutations in families with familial haematuria.

April 8, 2009Nephrology Dialysis TransplantationOpen Access

Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis

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Authors

APAlkis PieridesUniversity of Cyprus KVKonstantinos VoskaridesUniversity of Nicosia YAYiannis AthanasiouNicosia General Hospital

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Implication

Pedigree study demonstrates late progression to kidney failure in COL4A3/COL4A4 mutation carriers, indicating familial haematuria is not always benign.

Key Points

To determine the long-term clinical and pathological outcomes of heterozygous COL4A3 and COL4A4 gene mutations in families with familial haematuria.
Genetic testing was performed on 236 at-risk members from 11 large Cypriot pedigrees.
Clinico-pathological correlations were analyzed across 127 confirmed heterozygous mutation carriers.
Renal biopsies were evaluated in 21 mutation carriers using light microscopy, with 13 also analyzed by electron microscopy (EM).
Microscopic haematuria was present in 100% of carriers under age 30, but isolated haematuria dropped to 66% at ages 31–50, 30% at ages 51–70, and 23% over age 71.
Proteinuria and chronic renal failure developed in 8% of carriers aged 31–50, 25% aged 51–70, and 50% aged >71, with 14% (18/127) reaching end-stage renal disease at a mean age of 60 years.
Renal biopsies in all 21 evaluated patients revealed focal segmental glomerulosclerosis (FSGS), alongside glomerular basement membrane thinning confirmed on electron microscopy.

Cite This Study

Pierides et al. (2009) studied this question.

synapsesocial.com/papers/6a1d22b01e7099f69104f00e https://doi.org/10.1093/ndt/gfp158

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Implication

Pedigree study demonstrates late progression to kidney failure in COL4A3/COL4A4 mutation carriers, indicating familial haematuria is not always benign.

Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis

Discussion

Member takes

Implication

Key Points

Cite This Study

Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis

Discussion

Member takes

Implication

Key Points

Cite This Study

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